Clinical trials
Genetic Disease clinical trials
Below are recruiting genetic disease clinical trials, each written for real people, not researchers. We’re tracking 224 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT04046796Recruiting
Study genetics in identical twin who differ in symptoms
This study looks at DNA changes to explain why two identical (monozygotic) twins can have different symptoms. It may help clarify the cause of an unclear condition in one twin so the right diagnosis (and future treatment) can be found.
TübingenAges Any age - NCT07075107Recruiting
Using cell and blood tests to find causes of rare developmental disorders
This study is looking for people with rare, unexplained conditions that cause early intellectual disability and low muscle tone. Researchers want to study your cells and blood to try to find new genetic causes that standard DNA tests missed.
Marseille, Provence-Alpes-Côt-d'AzueAges birth–99 years - NCT06833489Recruiting
Using genetic testing to find answers for rare muscle diseases
This study looks at leftover muscle tissue from people who have had genetic testing for rare muscle diseases but didn't get a clear diagnosis. The goal is to use newer genetic analysis to find the cause of their disease.
MarseilleAges Any age - NCT04427163Recruiting
Study of health differences using blood and data profiles
This study looks at how people’s health and disease risk show up in multiple types of information collected together (like blood-related measures and other data). It may help researchers understand what patterns are linked to health versus future disease.
OlomoucAges 18–68 - NCT03624374Recruiting
Study of LBSL in people with DARS2 mutations
This trial is a natural history study, meaning it tracks how LBSL (a genetic condition) affects the brain, brainstem, and spinal cord over time. It may help researchers better understand disease patterns and provide information that could support future treatments.
Baltimore, MarylandAges Any age - NCT03931707Recruiting
Genetic study of newborns in China
This study collects genetic information from very young newborns to better understand early-life health. Your child’s information may help researchers learn about genetics and future research.
Shanghai, Shanghai MunicipalityAges Up to 4 weeks - NCT05386134Recruiting
Adaptive eye imaging for inherited and acquired retinal conditions
This study tests a special high-detail camera that takes clearer pictures of the retina (the light-sensing layer at the back of the eye). It may help researchers better understand different retinal diseases—and your results could support future diagnosis and care.
Toronto, OntarioAges 5–70 - NCT06081075Recruiting
Newborn Genomics Program for Sick Infants
This study looks at using rapid DNA testing (genomics) in newborns and children who are very sick in the hospital (NICU or PICU). The goal is to see if finding a genetic cause early can help guide treatment and improve outcomes.
AucklandAges birth–2 years - NCT07217535Recruiting
Studying the genetics of kidney disease
This study collects DNA and health information from people in the U.S. to better understand how genes may affect kidney disease. Your participation could help researchers find new ways to prevent or treat kidney problems.
Piscataway, New JerseyAges 18 years+ - NCT04994015RecruitingTeam says not enrolling
Genetic registry for people with Parkinson’s
This study builds a genetics “registry” of people diagnosed with Parkinson’s disease who agree to genetic testing. Your information may help researchers understand why Parkinson’s happens and improve future treatments.
Birmingham, AlabamaAges 18 years+ - NCT07040774Recruiting
Study of type 1 interferonopathies in Europe
This study looks at people with a confirmed type 1 interferonopathy, a rare immune condition caused by a gene change. It aims to learn more about how the condition progresses over time.
InnsbruckAges Any age - NCT03277365Recruiting
Share your 23andMe data with a digital genetics study
This study tests a digital platform that uses people’s existing genetic information to support genetic research. If you are an adult and willing to share your 23andMe results from an Apple phone, you can likely participate.
La Jolla, CaliforniaAges 18 years+ - NCT06584994Enrolling by invitation
Genetics and cancer risk in families
This study looks at how genes passed down in families might increase the chance of getting cancer. It collects samples from children with cancer and their family members to better understand cancer risks.
CambridgeAges Any age - NCT01631617RecruitingPhase 2
Atopic dermatitis treatments and how they affect skin
This Phase 2 study tests different treatments for atopic dermatitis (eczema) by looking at changes in skin health. It may help people find safer, more effective ways to control moderate to severe eczema and related skin infections.
Bethesda, MarylandAges 2–50 - NCT05848271Recruiting
Natural history study for people with HPDL gene changes
This study follows people who have an HPDL gene change to better understand how symptoms and health progress over time. It may help clinicians learn more about the condition and plan future treatments.
San Diego, CaliforniaAges Any age - NCT06023472Recruiting
Comparing sperm sorting methods for better genetic testing in IVF
This study compares two ways of preparing sperm for IVF (a microfluidic chip versus a centrifuge method). It aims to see which method leads to more genetically normal embryos (euploid) when doing PGT (pre-implantation genetic testing).
Hong Kong, Hong KongAges Up to 43 years - NCT04532346RecruitingEarly Phase 1
Hydroxychloroquine for genetic lung disease in children
This early-phase trial studies whether hydroxychloroquine can help children with certain genetic causes of interstitial lung disease (lung scarring/inflammation). It is designed for kids who are currently stable and have not recently taken hydroxychloroquine.
Shanghai, Shanghai MunicipalityAges 1 month–18 years - NCT06786754Enrolling by invitation
Skin cell study for Marfan syndrome and aortic aneurysms
This study looks at skin cells (fibroblasts) from people with Marfan syndrome or other genetic conditions that cause thoracic aortic aneurysms. The goal is to understand how these cells behave, which may help improve future treatments.
San Donato Milanese, MilanAges 18 years+ - NCT04477863Recruiting
Follow-up study for people who had genetic testing in embryos
This trial follows up with people who chose to participate in research when getting preimplantation genetic testing (testing genes in embryos). It may help researchers understand outcomes and improve future genetic testing and counseling.
North Brunswick, New JerseyAges Any age - NCT06953180Recruiting
Epigenetics, aging, and disease prevention study in Kazakhstan
This study looks at how your genes and environment affect your risk for non-communicable diseases like heart disease or diabetes. It aims to predict your biological age and help create personalized prevention plans.
Almaty, KazakhstanAges 18–69 - NCT06475651Recruiting
DNA patterns in rare prenatal diseases
This study looks at DNA patterns in fetuses or children with rare genetic conditions. It aims to better understand how these patterns relate to diseases that start before birth, which could help with diagnosis and future care.
ParisAges birth–18 years - NCT04024774Recruiting
Genetic testing study for rare diseases with an unclear cause
This study looks for a genetic (DNA) explanation for rare diseases when usual genetic testing hasn’t found an answer. It may help by re-analyzing prior results and comparing them with parents’ DNA to better pinpoint the cause.
DijonAges Any age - NCT06840717Recruiting
Genetic links to type 2 asthma in kids
This study looks at how certain genes might be connected to type 2 asthma in children. It aims to find out which kids are more likely to have asthma so doctors can better treat it.
Guangzhou, GuangdongAges 3–14 - NCT04731857Recruiting
Genetic testing results study for rare diseases
This study looks at how well different genetic tests (whole exome/genome sequencing and standard genetic tests) work for diagnosing rare genetic diseases and inherited cancer conditions. It may help confirm which testing approach provides the clearest results for families.
TübingenAges Any age
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Common questions
- Are there clinical trials for genetic disease?
- Yes. Clin2 currently lists 224 recruiting genetic disease studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a genetic disease trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a genetic disease trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.